"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "IFIH1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 541773	NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)	IFIH1 (P866L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1013858	NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr)	IFIH1 (A857T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1570850	NM_022168.4(IFIH1):c.1915G>A (p.Ala639Thr)	IFIH1 (A639T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 377048	NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)	IFIH1 (E627*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 7 +5 more	GConflicting classifications of pathogenicity
Select item 261563	NM_022168.4(IFIH1):c.1641+1G>C	IFIH1	Single nucleotide variant (splice donor variant)	Singleton-Merten syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1004257	NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr)	IFIH1 (P535T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 541780	NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)	IFIH1 (L528R)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 444523	NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala)	IFIH1 (T520A)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1305619	NM_022168.4(IFIH1):c.1095+1G>A	IFIH1	Single nucleotide variant (splice donor variant)	Immunodeficiency 95 +3 more	GUncertain significance
Select item 625959	NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)	IFIH1 (N160D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +3 more	GConflicting classifications of pathogenicity
Select item 547992	NM_022168.4(IFIH1):c.454-1G>T	IFIH1	Single nucleotide variant (splice acceptor variant)	Singleton-Merten syndrome 1 +1 more	GUncertain significance
Select item 541775	NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly)	IFIH1 (R149G)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 859413	NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe)	IFIH1 (L73F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance